A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation [0.03%]
用于检测拷贝数变异的基因组阵列 Comparative Genomic Hybridization 研究分析软件调查报告
Anis Karimpour-Fard,Laura Dumas,Tzulip Phang et al.
Anis Karimpour-Fard et al.
Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy numbers of DNA sequences at high...
Evolutionary divergence and functions of the human acyl-CoA thioesterase gene ( ACOT ) family [0.03%]
人类酰基辅酶A硫酯酶基因（ACOT）家族的进化分化及其功能研究
Chad Brocker,Christopher Carpenter,Daniel W Nebert et al.
Chad Brocker et al.
The acyl-CoA thioesterase gene (ACOT ) family encodes enzymes that catalyse the hydrolysis of acyl-CoA thioester compounds, also known as activated fatty acids, to their corresponding non-esterified (free) fatty acid and coenzyme A (CoASH)....
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides [0.03%]
甲基胞嘧啶的甲基介导脱氨基作用可导致人类遗传病相关突变：不只是在CpG二核苷酸中，还在CpNpG三联体中
David N Cooper,Matthew Mort,Peter D Stenson et al.
David N Cooper et al.
The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spon...
Magnus Ingelman-Sundberg,Sarah C Sim
Magnus Ingelman-Sundberg
The cytochrome P450 enzymes active in drug metabolism are highly polymorphic. Most allelic variants have been described for enzymes encoded by the cytochrome P450 family 2 (CYP2) gene family, which has 252 different alleles. The intronic po...
KinSNP software for homozygosity mapping of disease genes using SNP microarrays [0.03%]
利用单核苷酸多态性微阵列进行疾病基因纯合子定位的KinSNP软件
El-Ad David Amir,Ofer Bartal,Efrat Morad et al.
El-Ad David Amir et al.
Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases. Homozygosity mapping of patient genotypes is a powerful technique f...
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene [0.03%]
由线粒体基因组衍生的DNA序列插入PAFAH1B1（LIS1）基因5'非翻译区引起的单一皮层发育畸形病例
David S Millar,Carolyn Tysoe,Lazarus P Lazarou et al.
David S Millar et al.
A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly. The inserted DN...
Case Reports
Human genomics. 2010 Aug;4(6):384-93. DOI:10.1186/1479-7364-4-6-384 2010
Endothelial nitric oxide synthase gene polymorphisms -786T > C and 894G > T in coronary artery bypass graft surgery patients [0.03%]
内皮型一氧化氮合酶基因-786T>C和894G>T多态性与冠状动脉旁路移植术患者的相关性研究
Georgia Ragia,Eleftherios Nikolaidis,Anna Tavridou et al.
Georgia Ragia et al.
Polymorphisms in the endothelial nitric oxide synthase ( eNOS ) gene (- 786T > C and 894G > T ) enhance endothelial dysfunction and have been studied in relation to coronary artery disease (CAD). In the present study, we examined the associ...
General considerations for integrating pharmacogenomics into mainstream medical practice [0.03%]
药物基因组学整合进入常规医疗实践的总体考虑因素
George P Patrinos
George P Patrinos
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases [0.03%]
民族遗传数据库的发展和管理的电子工具ETHNOS
Sjozef van Baal,Joël Zlotogora,George Lagoumintzis et al.
Sjozef van Baal et al.
National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of geneti...
Sterling Thomas,Danail Bonchev
Sterling Thomas
Software for network motifs and modules is briefly reviewed, along with programs for network comparison. The three major software packages for network analysis, CYTOSCAPE, INGENUITY and PATHWAY STUDIO, and their associated databases, are co...